Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643773010 | Familial cortical myoclonus | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643777011 | Familial myoclonus of cerebral cortex | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643778018 | Familial myoclonus of cerebral cortex (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5404191011 | Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404192016 | Familial cortical myoclonus is a rare, genetic movement disorder characterised by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial cortical myoclonus | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial cortical myoclonus | Is a | Familial disease | true | Inferred relationship | Some | ||
Familial cortical myoclonus | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Familial cortical myoclonus | Is a | Cerebral cortex myoclonus (disorder) | true | Inferred relationship | Some | ||
Familial cortical myoclonus | Finding site | Structure of cerebral cortex (body structure) | true | Inferred relationship | Some | 1 | |
Familial cortical myoclonus | Interprets | Movement | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)